Incidental Mutation 'R2979:Pros1'
ID |
257049 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pros1
|
Ensembl Gene |
ENSMUSG00000022912 |
Gene Name |
protein S (alpha) |
Synonyms |
protein S |
Accession Numbers |
Genbank: NM_011173; MGI: 1095733 |
Is this an essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R2979 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
16 |
Chromosomal Location |
62854307-62929346 bp(+) (GRCm38) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 62913866 bp (GRCm38)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 345
(D345G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000023629
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023629]
|
AlphaFold |
Q08761 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000023629
AA Change: D345G
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000023629 Gene: ENSMUSG00000022912 AA Change: D345G
Domain | Start | End | E-Value | Type |
GLA
|
23 |
86 |
3.63e-31 |
SMART |
EGF
|
120 |
155 |
4.39e-2 |
SMART |
EGF_CA
|
157 |
200 |
6.91e-9 |
SMART |
EGF_CA
|
201 |
242 |
5.23e-9 |
SMART |
EGF_CA
|
243 |
283 |
1.1e-7 |
SMART |
LamG
|
321 |
458 |
8.55e-22 |
SMART |
LamG
|
506 |
646 |
1.57e-1 |
SMART |
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.4%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: This gene encodes a vitamin K-dependent protein with key roles in multiple biological processes including coagulation, apoptosis and vasculogenesis. The encoded protein undergoes proteolytic processing to generate a mature protein which is secreted into the plasma. Mice lacking the encoded protein die in utero from a fulminant coagulopathy and associated hemorrhages. [provided by RefSeq, Oct 2015] PHENOTYPE: Mice homozygous for a knock-out allele exhibit neonatal lethality associated with thrombosis, hemorrhage, and thrombocytopenia. [provided by MGI curators]
|
Allele List at MGI |
All alleles(5) : Targeted, knock-out(1) Targeted, other(2) Gene trapped(2) |
Other mutations in this stock |
Total: 19 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Afm |
A |
G |
5: 90,522,163 |
I48V |
probably benign |
Het |
Arhgef1 |
A |
G |
7: 24,907,751 |
E16G |
unknown |
Het |
Cps1 |
T |
C |
1: 67,204,704 |
|
probably null |
Het |
Dnah9 |
T |
C |
11: 66,117,588 |
K804E |
possibly damaging |
Het |
Fabp3 |
C |
T |
4: 130,312,387 |
T57I |
probably benign |
Het |
Gm18025 |
G |
T |
12: 34,290,971 |
P41Q |
probably damaging |
Het |
Kdm4c |
A |
T |
4: 74,373,728 |
R861* |
probably null |
Het |
Klhl2 |
C |
T |
8: 64,823,078 |
V58I |
probably damaging |
Het |
Msl1 |
G |
A |
11: 98,800,224 |
G178E |
possibly damaging |
Het |
Nacad |
T |
A |
11: 6,601,424 |
Q589L |
probably benign |
Het |
Sh3tc2 |
A |
G |
18: 61,989,485 |
Y439C |
probably damaging |
Het |
Smarcad1 |
T |
A |
6: 65,075,011 |
M376K |
probably benign |
Het |
Srd5a1 |
T |
C |
13: 69,600,299 |
Q127R |
probably damaging |
Het |
Synm |
T |
G |
7: 67,736,260 |
R551S |
probably damaging |
Het |
Trmt1 |
A |
G |
8: 84,696,882 |
Y301C |
probably damaging |
Het |
Ttc23l |
G |
A |
15: 10,537,566 |
S206L |
probably benign |
Het |
Txnl1 |
T |
C |
18: 63,671,620 |
T268A |
probably benign |
Het |
Zbbx |
C |
A |
3: 75,078,486 |
E420* |
probably null |
Het |
Zc3h7a |
A |
T |
16: 11,158,973 |
V153E |
probably damaging |
Het |
|
Other mutations in Pros1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00937:Pros1
|
APN |
16 |
62910045 |
missense |
probably damaging |
0.99 |
IGL01300:Pros1
|
APN |
16 |
62913811 |
missense |
possibly damaging |
0.85 |
IGL02709:Pros1
|
APN |
16 |
62898945 |
missense |
probably damaging |
0.99 |
IGL03080:Pros1
|
APN |
16 |
62918143 |
missense |
probably damaging |
0.98 |
IGL03095:Pros1
|
APN |
16 |
62907769 |
nonsense |
probably null |
|
F6893:Pros1
|
UTSW |
16 |
62924639 |
missense |
probably damaging |
0.98 |
R0124:Pros1
|
UTSW |
16 |
62913946 |
missense |
possibly damaging |
0.95 |
R0517:Pros1
|
UTSW |
16 |
62903518 |
missense |
probably benign |
0.03 |
R1113:Pros1
|
UTSW |
16 |
62913865 |
missense |
probably damaging |
0.99 |
R1308:Pros1
|
UTSW |
16 |
62913865 |
missense |
probably damaging |
0.99 |
R1355:Pros1
|
UTSW |
16 |
62919558 |
missense |
probably benign |
0.23 |
R1370:Pros1
|
UTSW |
16 |
62919558 |
missense |
probably benign |
0.23 |
R1517:Pros1
|
UTSW |
16 |
62885512 |
missense |
probably damaging |
0.98 |
R1866:Pros1
|
UTSW |
16 |
62928135 |
missense |
possibly damaging |
0.86 |
R1876:Pros1
|
UTSW |
16 |
62903518 |
missense |
probably damaging |
0.96 |
R2255:Pros1
|
UTSW |
16 |
62903572 |
missense |
possibly damaging |
0.86 |
R2364:Pros1
|
UTSW |
16 |
62913848 |
missense |
probably damaging |
0.99 |
R2369:Pros1
|
UTSW |
16 |
62928069 |
missense |
probably damaging |
1.00 |
R3724:Pros1
|
UTSW |
16 |
62900329 |
missense |
possibly damaging |
0.86 |
R4056:Pros1
|
UTSW |
16 |
62900645 |
nonsense |
probably null |
|
R4556:Pros1
|
UTSW |
16 |
62900673 |
missense |
possibly damaging |
0.95 |
R4688:Pros1
|
UTSW |
16 |
62889007 |
critical splice donor site |
probably null |
|
R4850:Pros1
|
UTSW |
16 |
62885524 |
missense |
probably damaging |
0.98 |
R4923:Pros1
|
UTSW |
16 |
62903572 |
missense |
possibly damaging |
0.86 |
R5008:Pros1
|
UTSW |
16 |
62928185 |
missense |
possibly damaging |
0.53 |
R5370:Pros1
|
UTSW |
16 |
62913976 |
missense |
probably benign |
0.01 |
R5580:Pros1
|
UTSW |
16 |
62926326 |
critical splice acceptor site |
probably null |
|
R5930:Pros1
|
UTSW |
16 |
62928061 |
missense |
probably damaging |
0.96 |
R5974:Pros1
|
UTSW |
16 |
62900667 |
missense |
probably damaging |
0.98 |
R6233:Pros1
|
UTSW |
16 |
62898921 |
missense |
possibly damaging |
0.47 |
R6949:Pros1
|
UTSW |
16 |
62924575 |
missense |
probably benign |
0.01 |
R7055:Pros1
|
UTSW |
16 |
62928102 |
missense |
possibly damaging |
0.85 |
R7347:Pros1
|
UTSW |
16 |
62919523 |
missense |
probably damaging |
0.97 |
R7375:Pros1
|
UTSW |
16 |
62924550 |
missense |
probably damaging |
0.96 |
R7419:Pros1
|
UTSW |
16 |
62928070 |
nonsense |
probably null |
|
R7980:Pros1
|
UTSW |
16 |
62928153 |
missense |
possibly damaging |
0.86 |
R8234:Pros1
|
UTSW |
16 |
62928177 |
missense |
possibly damaging |
0.73 |
R8479:Pros1
|
UTSW |
16 |
62907739 |
missense |
probably damaging |
1.00 |
R8514:Pros1
|
UTSW |
16 |
62910109 |
missense |
probably benign |
0.03 |
R8827:Pros1
|
UTSW |
16 |
62926464 |
missense |
probably benign |
0.13 |
R9131:Pros1
|
UTSW |
16 |
62928034 |
missense |
probably damaging |
0.96 |
R9484:Pros1
|
UTSW |
16 |
62924524 |
missense |
possibly damaging |
0.91 |
|
Predicted Primers |
PCR Primer
(F):5'- CAACCTGTGAACAATTTAATGCTGC -3'
(R):5'- TTGCTCCCACTTGACAATCAG -3'
Sequencing Primer
(F):5'- GACCCTTCTGAATCTCTCAC -3'
(R):5'- CGTTGTTAATAACATTGCCTC -3'
|
Posted On |
2015-01-11 |